Children's Hospital Colorado

WAGR Syndrome in Children

What is WAGR syndrome?

WAGR syndrome, or WAGR complex, is a genetic disorder that affects the kidneys, urinary tract, genitalia, eyes and mental abilities. The acronym WAGR stands for Wilms tumor, aniridia, genitourinary malformations and a range of mental disabilities. Each aspect of the syndrome can affect the body in very different ways:

  • Wilms tumor, also known as nephroblastoma, is a rare malignant (cancerous) tumor that forms in the kidneys.
  • Aniridia is a disease that results in the absence of the iris (the colored part of the eye).
  • Genitourinary malformations are defects that can affect the function of the kidneys, urinary tract, scrotum, penis, testicles, clitoris and ovaries.
  • Range of mental disabilities can include both psychiatric and behavioral issues, as well as a developmental disorder called autism spectrum disorder.

What causes WAGR syndrome?

WAGR syndrome is the result of missing or inactive PAX6 and WT1 genes on chromosome 11. The PAX6 gene affects the formation of the eye, and the WT1 gene controls cell growth and suppresses tumor growth.

Because the disease is genetic, it can be inherited, or passed on, from a parent or relative.